EIF1AY
Eukaryotic Translation Initiation Factor 1A Y-Linked
Gene Information Card
| Symbol | EIF1AY |
|---|---|
| Full Name | Eukaryotic Translation Initiation Factor 1A Y-Linked |
| Gene Type | Protein coding |
| Chromosomal Location | Yq11.222 |
| NCBI Gene ID | 9086 ncbi.nlm.nih.gov/gene/9086 |
| Ensembl ID | ENSG00000198692 |
| UniProt ID | O14602 |
| OMIM ID | 400014 |
| HGNC ID | 3252 |
| Aliases | EIF1A, eIF-1A Y, eIF4C |
Description
EIF1AY (Eukaryotic Translation Initiation Factor 1A Y-Linked) is a protein-coding gene located on the Y chromosome. It encodes a component of the eukaryotic translation initiation factor 1A (eIF1A) complex, which is essential for the initiation of protein synthesis by promoting the binding of the initiator tRNA to the 40S ribosomal subunit. EIF1AY is the Y-linked homolog of the X-linked EIF1AX gene and is expressed in a male-specific manner. It plays a role in cellular growth and proliferation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Gonadal dysgenesis (46,XY) | Deletions or mutations in Yq11 region including EIF1AY may impair testicular development | OMIM #400014 |
| Male infertility | Copy number variations or deletions of EIF1AY are associated with spermatogenic failure | ClinVar, NCBI |
| Turner syndrome (mosaic) | Loss of Y chromosome material including EIF1AY contributes to phenotype | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Prostate | 6.2 | Low |
| Adrenal gland | 4.1 | Low |
| Thyroid | 3.8 | Low |
| Lung | 2.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 8.1 | Cervical cancer cell line |
| K562 | 6.5 | Leukemia cell line |
| HEK293 | 5.9 | Embryonic kidney cell line |
| HepG2 | 4.3 | Liver cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon; predicted loss of function |
| c.214C>T (p.Arg72Trp) | Missense | <0.01% | Unknown significance |
| Whole gene deletion | Copy number loss | Rare | Associated with male infertility |
Mutation functional classification
Loss of Function (LOF)
Deletions or start-loss mutations impair translation initiation, linked to spermatogenic failure.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • translation initiation factor activity | • ribosome binding |
| • cytoplasm | • eukaryotic translation initiation factor 1A complex |
| • protein binding |
Pathways
• Eukaryotic Translation Initiation
• Cap-dependent Translation Initiation
• Formation of the 43S pre-initiation complex
Protein Summary
EIF1AY encodes a 144-amino acid protein (eIF1A Y) that is 93% identical to its X-linked counterpart eIF1AX. The protein contains an oligonucleotide/oligosaccharide-binding (OB) fold domain that mediates RNA binding and ribosome association. It is essential for the assembly of the 43S pre-initiation complex and scanning of mRNA. Expression is predominantly in male tissues, particularly testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EIF1AY Knockout HEK293 Cell Line | EDJ-KQ6457 | Human | 9086 | Details Get a Quote |
| EIF1AY Knockout A-549 Cell Line | EDJ-KQ30534 | Human | 9086 | Details Get a Quote |
| EIF1AY Knockout HCT 116 Cell Line | EDJ-KQ30535 | Human | 9086 | Details Get a Quote |
| EIF1AY Knockout HeLa Cell Line | EDJ-KQ55082 | Human | 9086 | Details Get a Quote |
